Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective

• Principais autores: Raymond Saich (Autor), Renee Brown (Autor), Maddy Collicoat (Autor), Catherine Jenner (Autor), Jenna Primmer (Autor), Beverley Clancy (Autor), Tarryn Holland (Autor), Steven Krinks (Autor)
• Formato: Livro
• Publicado em: MDPI AG, 2020-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Pompe disease (PD) is a rare, autosomal-recessively inherited deficiency in the enzyme acid α-glucosidase. It is a spectrum disorder; age at symptom onset and rate of deterioration can vary considerably. In affected infants prognosis is poor, such that without treatment most infants die wit...